1. Gene
  2. VAX2 - ventral anterior homeobox 2 Gene

VAX2 - ventral anterior homeobox 2 Gene

中文名称:腹侧前同源盒 2

种属: Homo sapiens

同用名: DRES93

基因 ID: 25806 | 基因类型: protein coding

关于 VAX2

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:70,900,576-70,933,446 (from NCBI)

This gene has 3 transcripts (splice variants), 184 orthologues and 3 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码同源框蛋白,在发育过程中几乎只在视网膜的腹侧部分表达。在小鼠研究中,发现该基因是正确形成视裂和视网膜发育的其他方面所必需的。[RefSeq 提供,2008 年 9 月]

This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and Other aspects of retinal development. [provided by RefSeq, Sep 2008]

VAX2 基因产物(1)

mRNA Protein Name
NM_012476.3 NP_036608.1 ventral anterior homeobox 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

VAX2 蛋白结构

Homeobox

Homeobox: Homeobox domain (103 - 159)

  • 0
  • 100
  • 200
  • 290 a.a.
蛋白主名 其他名称

ventral anterior homeobox 2

VAX2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
VAX2 Q9UIW0 POU6F2 Homo sapiens P78424
Y2H Prey Pooling
32296183
种属内
VAX2 Q9UIW0 POU6F2 Homo sapiens P78424
Y2H Array
32296183
种属内
VAX2 Q9UIW0 UFSP1 Homo sapiens Q6NVU6
Y2H Array
32296183
种属内
VAX2 Q9UIW0 UFSP1 Homo sapiens Q6NVU6
Y2H Prey Pooling
32296183
种属内
VAX2 Q9UIW0 PFDN5 Homo sapiens Q99471
Y2H Prey Pooling
32296183
种属内
VAX2 Q9UIW0 PFDN5 Homo sapiens Q99471
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Astigmatism
Valproate Embryopathy

Fetal Valproate Syndrome

Fetal Valproic Acid Syndrome

Fvs

Valproic Acid Embryopathy

Fetal Valproate Spectrum Disorder

Valproate Embryopathy, Susceptibility To

Foetal Valproate Syndrome

Foetal Valproic Acid Syndrome

Susceptibility To Valproate Embryopathy

Valproic Acid Antenatal Infection

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

BBSOAS

Optic Atrophy-Intellectual Disability Syndrome

Robinow Syndrome, Autosomal Dominant 1

Autosomal Dominant Robinow Syndrome 1

DRS1

Robinow Dwarfism

Fetal Face Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Robinow, Autosomal Dominant Syndrome, Type 1

Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

Teebi Hypertelorism Syndrome 1

Teebi Hypertelorism Syndrome

Brachycephalofrontonasal Dysplasia

Hypertelorism, Teebi Type

TBHS1

Tbhs

Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype

Opitz Gbbb Syndrome Type Ii

Specc1l-Related Hypertelorism Syndrome

Opitz Gbbb Syndrome, Type Ii, Formerly

Gbbb2, Formerly

Opitz Bbbg Syndrome, Type Ii, Formerly

Bbbg2, Formerly

Opitz-G Syndrome, Type Ii, Formerly

Ogs2, Formerly

Opitz Bbb Syndrome, Type Ii, Formerly

Hypertelorism-Hypospadias Syndrome, Formerly

Hypertelorism With Esophageal Abnormality And Hypospadias, Formerly

Opitz Oculogenitolaryngeal Syndrome, Type Ii, Formerly

Opitz-Frias Syndrome, Formerly

Teebi Hypertelorism Syndrome-1

Craniofrontonasal Dysplasia, Teebi Type

Bbb Syndrome

Gbbb Syndrome

G Syndrome

Hypertelorism-Hypospadias Syndrome

Hypertelorism With Esophageal Abnormality And Hypospadias

Hypospadias-Dysphagia Syndrome

Ogs2

Opitz Bbbg Syndrome

Opitz-Frias Syndrome

Opitz Gbbb Syndrome, Autosomal Dominant

Opitz-G Syndrome, Type Ii

Opitz Oculogenitolaryngeal Syndrome, Type Ii

Opitz Gbbb Syndrome, Type Ii

Teebi Syndrome

Opitz-G Syndrome, Type 2

Opitz Gbbb Syndrome, X-Linked

Digeorge Syndrome

Spinal Muscular Atrophy, Type Iv

SMA4

Spinal Muscular Atrophy, Adult Form

Spinal Muscular Atrophy 4

Spinal Muscular Atrophy-4

Adult Spinal Muscular Atrophy

Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive

Proximal Spinal Muscular Atrophy Type 4

Sma Type 4

Sma Type Iv

Sma-Iv

Sma Iv

Spinal Muscular Atrophy Adult Form

Spinal Muscular Atrophy Proximal Adult Autosomal Recessive

Spinal Muscular Atrophy Type Iv

Atrophy, Muscular, Spinal, Type Iv

Myelopathic Muscular Atrophy

Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

Achromatopsia 7

ACHM7

Achromatopsia, Type 7

Retinitis Pigmentosa 12

RP12

Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium

Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium

Rp With Or Without Pprpe

Retinitis Pigmentosa-12

Tracheitis

Acute Tracheitis

Chronic Tracheitis

Bacterial Tracheitis

Acute Tracheitis Nos

Tracheitis Nos

Tracheal Inflammation

Septooptic Dysplasia

Septo-Optic Dysplasia

De Morsier Syndrome

Growth Hormone Deficiency With Pituitary Anomalies

SOD

Pituitary Hormone Deficiency, Combined, 5

Septo-Optic Dysplasia Spectrum

Septo-Optic Dysplasia With Growth Hormone Deficiency

Pituitary Hormone Deficiency, Combined 5

Hypopituitarism And Septooptic 'Dysplasia'

GHDPA

CPHD5

Dysplasia, Septo-Optic

Kallmann Syndrome

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Felis catus VAX2 VGNC VGNC:66928
Rattus norvegicus VAX2 RGD RGD:621133
Macaca mulatta VAX2 VGNC VGNC:78760
Canis familiaris VAX2 VGNC VGNC:54553
Bos taurus VAX2 VGNC VGNC:36776
Mus musculus VAX2 MGD MGI:1346018